AI Article Synopsis
- - Researchers studied the genetic backgrounds of 31 patients with cryptogenic new-onset refractory status epilepticus (cNORSE) to understand its unclear causes.
- - These patients showed higher polygenic risk scores for traits linked to autoimmune diseases when compared to controls, indicating a genetic predisposition.
- - Specific genetic variants were found to be more prevalent in genes active in the central nervous system and immune cells, suggesting a common genetic link between cNORSE and other autoimmune conditions.
Article Abstract
Cryptogenic new-onset refractory status epilepticus (cNORSE) is a devastating condition with unclear pathogenesis. Here, we analyzed the genetic underprints of 31 cNORSE patients from an autoimmune encephalitis observational cohort through whole-genome sequencing. Compared to their controls, cNORSE patients exhibited elevated polygenic risk scores (PRS) for traits associated with autoimmune diseases. The individual PRS against these diseases were correlated with specific clinical phenotypes of cNORSE. The variants were enriched in genes expressed in the central nervous system and lymphocytes. These results suggest a shared genetic framework between cNORSE and other autoimmune/autoinflammatory diseases, and its involvement in the disease pathogenesis. ANN NEUROL 2024;96:1201-1208.
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